Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000805925 | SCV000945900 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2021-08-31 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the MECP2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with Rett syndrome (PMID: 21871116). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic. |